H31R (p.His31Arg) variant of BMPR1A (P36894)
H31R (p.His31Arg) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H31R (p.His31Arg) variant details
- p.His31Arg
- rs1589763313
- ClinGen CA377446319
- ClinVar RCV001370459
- ClinVar RCV003478803
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.30
- AlphaMissense 0.22
- MetaLR 0.42
- MetaSVM -0.19
- CADD 19.40
- PolyPhen-2 0.90
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Juvenile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)